Trisomy 13
Alternate Names : Patau Syndrome
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Trisomy 13 Diagnosis & Tests
The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease:
Gastrointestinal X-rays or ultrasound may reveal abnormal rotation of the internal organs. MRI or CT scans of the head may reveal a structural abnormality of the brain, called holoprosencephaly, where the 2 cerebral hemispheres are fused. Chromosome studies show trisomy 13, partial trisomy, trisomy 13 mosaic, or translocation.
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